T117M (p.Thr117Met) variant of SMC3 (Q9UQE7)
T117M (p.Thr117Met) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cornelia de Lange syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T117M (p.Thr117Met) variant details
- p.Thr117Met
- Ensembl rs1860976420
- Uncertain significance
- not provided; Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Cornelia de Lange syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available